Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome

Hum Mol Genet. 2014 Feb 15;23(4):1095-107. doi: 10.1093/hmg/ddt504. Epub 2013 Oct 9.

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder in which patients carry premutation alleles of 55-200 CGG repeats in the FMR1 gene. To date, whether alterations in epigenetic regulation modulate FXTAS has gone unexplored. 5-Hydroxymethylcytosine (5hmC) converted from 5-methylcytosine (5mC) by the ten-eleven translocation (TET) family of proteins has been found recently to play key roles in neuronal functions. Here, we undertook genome-wide profiling of cerebellar 5hmC in a FXTAS mouse model (rCGG mice) and found that rCGG mice at 16 weeks showed overall reduced 5hmC levels genome-wide compared with age-matched wild-type littermates. However, we also observed gain-of-5hmC regions in repetitive elements, as well as in cerebellum-specific enhancers, but not in general enhancers. Genomic annotation and motif prediction of wild-type- and rCGG-specific differential 5-hydroxymethylated regions (DhMRs) revealed their high correlation with genes and transcription factors that are important in neuronal developmental and functional pathways. DhMR-associated genes partially overlapped with genes that were differentially associated with ribosomes in CGG mice identified by bacTRAP ribosomal profiling. Taken together, our data strongly indicate a functional role for 5hmC-mediated epigenetic modulation in the etiology of FXTAS, possibly through the regulation of transcription.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methylcytosine / analogs & derivatives
  • Animals
  • Ataxia / genetics*
  • Ataxia / metabolism
  • Base Sequence
  • Cerebellum / metabolism
  • Consensus Sequence
  • Cytosine / analogs & derivatives*
  • Cytosine / metabolism
  • DNA Methylation*
  • Disease Models, Animal
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / metabolism
  • Humans
  • Mice
  • Mice, Transgenic
  • Terminator Regions, Genetic
  • Transcription Initiation Site
  • Tremor / genetics*
  • Tremor / metabolism

Substances

  • 5-hydroxymethylcytosine
  • 5-Methylcytosine
  • Cytosine

Supplementary concepts

  • Fragile X Tremor Ataxia Syndrome

Associated data

  • GEO/GSE49463